Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression

A Zlotogorski1, L Horev, B Glaser

  • 1Department of Dermatology, Hadassah University Hospital, Jerusalem, Israel. zloto@cc.huji.ac.il

Experimental Dermatology
|December 1, 1998
PubMed
Summary

Monilethrix, a rare hair disorder, is linked to a keratin hHb6 mutation. This study reveals a co-dominant mutation causing severe hair loss and skin issues, particularly in homozygous individuals.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Erythema nodosum leprosum post-COVID-19 vaccination: endemic while pandemic.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022
Same author

Guidelines for clinical trials of frontal fibrosing alopecia: consensus recommendations from the International FFA Cooperative Group (IFFACG).

The British journal of dermatology·2021
Same author

Measurement of the Charge-Averaged Elastic Lepton-Proton Scattering Cross Section by the OLYMPUS Experiment.

Physical review letters·2021
Same author

The impact of social complexity on the visual exploration of others' actions in preschoolers with autism spectrum disorder.

BMC psychology·2021
Same author

Study of Two-Photon Exchange via the Beam Transverse Single Spin Asymmetry in Electron-Proton Elastic Scattering at Forward Angles over a Wide Energy Range.

Physical review letters·2020
Same author

Circulating breast-derived DNA allows universal detection and monitoring of localized breast cancer.

Annals of oncology : official journal of the European Society for Medical Oncology·2020

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Monilethrix is a rare autosomal dominant disorder affecting hair structure and causing hyperkeratotic papules.
  • Previous research identified mutations in hair-specific keratins hHb6 and hHb1 as causes of Monilethrix.

Purpose of the Study:

  • To investigate the genetic basis of Monilethrix in a large family with a novel mutation.
  • To analyze the clinical variability and inheritance pattern of the identified mutation.

Main Methods:

  • Clinical evaluation of 15 family members (12 heterozygous, 3 homozygous for the mutation).
  • Identification and characterization of a specific mutation (E410D) in the keratin hHb6 gene.

Main Results:

Related Experiment Videos

  • A heterozygous E410D mutation in the keratin hHb6 gene was identified.
  • Variable disease expression was observed in heterozygous individuals.
  • Homozygous individuals exhibited severe alopecia (hair loss) and widespread follicular keratotic papules from early infancy.

    • Conclusions:

    • This is the first report of a co-dominant keratin hHb6 mutation causing severe Monilethrix.
    • The findings suggest that other genetic or environmental factors may influence disease severity and expression.
    • The study highlights the critical role of keratin hHb6 in hair development and integrity.